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rs398123797

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGC;CAGC) 0 common in clinvar
(CCAG;CCAG) 0 common in clinvar
Make rs398123797(-;-)
Make rs398123797(-;CAGC)
ReferenceGRCh38 38.1/141
Chromosome2
Position71679125
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123797
ebirs398123797
HLIrs398123797
Exacrs398123797
Varsomers398123797
Maprs398123797
PheGenIrs398123797
hapmaprs398123797
1000 genomesrs398123797
hgdprs398123797
ensemblrs398123797
gopubmedrs398123797
geneviewrs398123797
scholarrs398123797
googlers398123797
pharmgkbrs398123797
gwascentralrs398123797
openSNPrs398123797
23andMers398123797
23andMe allrs398123797
SNP Nexus

SNPshotrs398123797
SNPdbers398123797
MSV3drs398123797
GWAS Ctlgrs398123797
Max Magnitude0
ClinVar
Risk rs398123797(;)
Alt rs398123797(;)
Reference rs398123797(CCAG;CCAG)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN not provided Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71906255_71906258delCAGC
CLNSRC HGMD
CLNACC RCV000080314.3, RCV000179104.2,